Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). 1980

H D Dorfman, and J Lorenzo

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001842 Bone and Bones A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX. Bone Tissue,Bone and Bone,Bone,Bones,Bones and Bone,Bones and Bone Tissue,Bony Apophyses,Bony Apophysis,Condyle,Apophyses, Bony,Apophysis, Bony,Bone Tissues,Condyles,Tissue, Bone,Tissues, Bone
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005097 Exostoses, Multiple Hereditary Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. Chondrodysplasia, Hereditary Deforming,Diaphyseal Aclasis,Exostoses, Familial,Exostoses, Hereditary Multiple,Exostoses, Multiple,Exostoses, Multiple Cartilaginous,Hereditary Multiple Exostoses,Osteochondromas, Multiple,Bessel-Hagen Disease,Exostoses, Multiple, Type I,Exostosis, Familial,Exostosis, Hereditary Multiple,Exostosis, Multiple,Exostosis, Multiple Cartilaginous,Familial Exostoses,Hereditary Multiple Exostosis,Multiple Cartilaginous Exostoses,Multiple Hereditary Exostoses,Multiple Osteochondromas,Multiple Osteochondromatosis,Aclases, Diaphyseal,Aclasis, Diaphyseal,Cartilaginous Exostoses, Multiple,Cartilaginous Exostosis, Multiple,Chondrodysplasias, Hereditary Deforming,Deforming Chondrodysplasia, Hereditary,Deforming Chondrodysplasias, Hereditary,Diaphyseal Aclases,Familial Exostosis,Hereditary Deforming Chondrodysplasia,Hereditary Deforming Chondrodysplasias,Hereditary Exostoses, Multiple,Multiple Cartilaginous Exostosis,Multiple Exostoses,Multiple Exostoses, Hereditary,Multiple Exostosis,Multiple Exostosis, Hereditary,Multiple Osteochondroma,Osteochondroma, Multiple
D005260 Female Females
D005269 Femur The longest and largest bone of the skeleton, it is situated between the hip and the knee. Trochanter,Greater Trochanter,Lesser Trochanter,Femurs,Greater Trochanters,Lesser Trochanters,Trochanter, Greater,Trochanter, Lesser,Trochanters,Trochanters, Greater,Trochanters, Lesser
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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